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Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689.

A new overgrowth syndrome is due to mutations in RNF125.

Collaborators (177)

Plasencia A, Rosa AL, Blanquer A, García-Alix A, Santana A, Delicado A, Alonso A, Rodriguez A, Sanchis A, Moreno A, Patiño García A, Vega A, Bredani A, Solari AP, Villavicencio A, Acosta A, Nieto A, Cueto González AM, Baldellón A, González Meneses A, Martinez Carrascal A, Díazde Bustamante A, Ocasar A, Gener B, González B, Groisman B, Coffee B, Martín CA, Aragon Fernandez C, Benito C, Seisdedos CM, Roche C, Arberas C, Perandones C, Contessotto C, Olivas C, Armenta D, Cavalcanti D, Elorza D, Castilla E, Zamora E, Zambrano E, Steichen E, Caro Cruz E, Galán Gómez E, Román E, Goldschmidt E, Marfil E, Gean E, Antolín E, Gascón Jiménez FJ, Ramos F, López Grondona F, Córdoba F, Regla Vargas F, Martinez F, GarcíaVegada JM, Uzielli G, Gacio G, Armengod CG, Mercado G, Cassinelli H, Orioli I, Arroyo I, Díez López I, Onsurbe Ramírez I, Castroviejo IP, Pascual IP, Vázquez Rio I, Bueno I, Espejo Portero I, Lorda Sánchez I, Sánchez del Pozo J, Campistol J, Arcas J, Fernández J, Planells JG, Pisón JL, Barreiro J, del Valle Núñez J, Jiménez Liria MJ, Fernández Toral J, Ramírez J, Rosell J, Vilaplana J, Cabralde Almeida JC, Labarta JI, Herranz J, Fernández Luna JL, Fuster JL, Díaz JM, Gairi JM, García Sagredo JM, Piñero JA, López Gutiérrez JC, Fernández JM, López Siguero JP, Tovar J, Armstrong J, Lara J, Arranz L, Rodríguez L, Soriano L, Cardoso L, De Alba L, Cimbalistiene L, Martorell L, Gutiérrez Solana Ls, Pérez Jurado L, López Ariztegui MA, Molina MA, García MC, Lozano M, Alija Merillas MJ, Martínez-Frías ML, Martínez Fernández ML, Jadraque M, García Pérez MA, Rodríguez Pedreira MM, Ribate MP, González López MT, Moral Pumarega M, Segovia M, Lizama M, Pombo M, Martínez M, Tabernero M, Ramos MA, Ballesta M, Belar M, Lautre MJ, Cruz M, Martínez Guardia MN, Sarries FJ, Artigas M, Villanueva M, Torrabías M, del Campo M, Vila MT, Urioste M, Rosello M, Kantaputra N, Matos PP, Dorao P, Casano P, Lalaguna Mallada P, Olivares P, Perez Delgado R, Bernardi P, CaminoLeón R, Cañete R, Gaztañaga R, Velazquez R, Vidal Samahuja R, Sáez Villaverde R, Gracia R, Scott R, Valdez R, Arteaga R, Cedeño R, Cazorla R, Iglesias RM, Bronberg R, Climent S, Conde Barreiro S, Kapoor S, Kleppe S, Santillán S, García Lopez T, Calvo T, Vendrell T, Tirado P, Toledo Pacheco C, Ureta Huertos A, Lopez V, Lotersztein V, Méndez V.

Author information

1
CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Molecular Endocrinology Unit - Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.

Abstract

Overgrowth syndromes (OGS) are a group of disorders in which all parameters of growth and physical development are above the mean for age and sex. We evaluated a series of 270 families from the Spanish Overgrowth Syndrome Registry with no known OGS. We identified one de novo deletion and three missense mutations in RNF125 in six patients from four families with overgrowth, macrocephaly, intellectual disability, mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjögren syndrome. RNF125 encodes an E3 ubiquitin ligase and is a novel gene of OGS. Our studies of the RNF125 pathway point to upregulation of RIG-I-IPS1-MDA5 and/or disruption of the PI3K-AKT and interferon signaling pathways as the putative final effectors.

KEYWORDS:

RNF125; autoimmune disorder; intellectual disability; macrocephaly; overgrowth

PMID:
25196541
DOI:
10.1002/humu.22689
[Indexed for MEDLINE]

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